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    MTHFR Mutation

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    Robin Kallis
    The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine to methionine. visit https://www.mthfrdoctors.com

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    © All Rights Reserved
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    MTHFR Mutation

    Uploaded by

    Robin Kallis
    259 views1 page
    The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine to methionine. visit https://www.mthfrdoctors.com

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    © © All Rights Reserved

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    The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine to methionine. visit https://www.mthfrdoctors.com

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    259 views1 page

    MTHFR Mutation

    Uploaded by

    Robin Kallis
    The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine to methionine. visit https://www.mthfrdoctors.com

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Download as pdf or txt
    of 1

    MTHFR Mutation - MTHFR Genetic

    Mutation
    The MTHFR Mutation – Methylenetetrahydrofolate Reductase (MTHFR) is critical in the function of DNA
    methylation, a complex biochemical process that regulates gene expression (i.e., turning genes on and
    off). It also governs intracellular detoxification, regulates protein function and RNA production, and
    supports the immune system. The MTHFR gene metabolizes folate, which is a key nutrient for
    methylation, specifically the conversion of homocysteine (a potentially toxic amino acid) to methionine.

    MTHFR provides methylation with its main fuel: folate (5-MethylTetraHydroFolate). Without adequate
    amounts of folate, methylation function is reduced. Methylation is required for virtually every process in
    our body, therefore affecting numerous health conditions. In fact, in many studies, researchers have
    found that the MTHFR mutation is linked to a variety of conditions. Below is a partial list of MTHFR
    symptoms and conditions in alphabetical order:

    Why do we need this test?


    Over 80% of the population has an MTHFR mutation in at least one of the two most important alleles
    (C677T and A1298C) of the MTHFR gene. *1

    MTHFR C677T can also lead to high homocysteine, although this can be difficult to clinically identify
    because other factors can also influence homocysteine levels. Research has shown that an MTHFR
    mutation of this allele has a greater impact on health compared to other alleles.

    MTHFR A1298C has not been found clinically to have an effect on homocysteine levels. This allele has a
    greater effect in the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of
    neurotransmitters such as epinephrine, norepinephrine, serotonin, dopamine and melatonin. A deficiency
    of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.

    Compound heterozygous and homozygous C677T are considered severe or “at risk” of reduced
    methylation. High homocysteine has a high risk factor for numerous diseases. Homozygous C677T and
    compound heterozygous MTHFR mutations are more likely to correlate with elevated homocysteine levels
    and a greater risk of heart disease.

    Those with a heterozygous MTHFR mutation (C677T) may lose roughly 40% of their enzyme activity, and
    those with a homozygous MTHFR mutation may lose up to 70%.

    Today, science has proven that our body has a mechanism capable of silencing “bad genes” or regulating
    gene expression. This process is called methylation.

    For more information visit our website

    https://www.mthfrdoctors.com

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